Varaico: Literature-Extracted Genetic Variants

Gene:SYP
Variant:p.G217D
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SYP

NM_003179.3:p.G217D

Associated Papers

A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.

Takao M et al.

Acta Neuropathologica, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."